Lipofuscinosis neuronal ceroidea y síndrome de Bardet-Biedl en paciente con retinosis pigmentaria

by José D. Santotoribio, Esperanza Lepe Balsalobre, Irene Alonso Pérez, Andrea Campo Barasoain, Hada C. Macher
Published 2021-08-01

Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa

by José D. Santotoribio, Esperanza Lepe-Balsalobre, Irene Alonso-Pérez, Andrea Campo-Barasoain, Hada C. Macher
Published 2021-08-01

Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

by Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher
Published 2021-05-01

The diagnostic value of pleural fluid homocysteine in malignant pleural effusion.

by Jose D Santotoribio, Luis Del Valle-Vazquez, Angela García-de la Torre, Daniel Del Castillo-Otero, Juan-Bosco Lopez-Saez, Maria J Sanchez Del Pino
Published 2019-01-01